rs111687884

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.5	Familial thoracic aortic aneurysms and dissections (FTAAD)

Make rs111687884(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48537704

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs111687884
dbSNP (classic)	rs111687884
ClinGen	rs111687884
ebi	rs111687884
HLI	rs111687884
Exac	rs111687884
Gnomad	rs111687884
Varsome	rs111687884
LitVar	rs111687884
Map	rs111687884
PheGenI	rs111687884
Biobank	rs111687884
1000 genomes	rs111687884
hgdp	rs111687884
ensembl	rs111687884
geneview	rs111687884
scholar	rs111687884
google	rs111687884
pharmgkb	rs111687884
gwascentral	rs111687884
openSNP	rs111687884
23andMe	rs111687884
SNPshot	rs111687884
SNPdbe	rs111687884
MSV3d	rs111687884
GWAS Ctlg	rs111687884

Max Magnitude

6.5

ClinVar
Risk	rs111687884(G;G) rs111687884(T;T)
Alt	rs111687884(G;G) rs111687884(T;T)
Reference	Rs111687884(C;C)
Significance	Pathogenic
Disease	Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Reversed	1
HGVS	NC_000015.9:g.48829901G>A
CLNSRC	ClinVar
CLNACC	RCV000035243.2, RCV000244930.1,